AOA1
MCID: ATX007
MIFTS: 24

Ataxia with Oculomotor Apraxia Type 1 (AOA1) malady

Ear diseases category

Summaries for Ataxia with Oculomotor Apraxia Type 1

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19GeneReviews, 32MalaCards
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MalaCards: Ataxia with Oculomotor Apraxia Type 1, also known as ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, is related to apraxia and cerebellar ataxia. An important gene associated with Ataxia with Oculomotor Apraxia Type 1 is APTX (aprataxin), and among its related pathways is Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The compounds coq10 and dopamine have been mentioned in the context of this disorder. Related mouse phenotype taste/olfaction.

GeneReviews summary for aoa

Aliases & Classifications for Ataxia with Oculomotor Apraxia Type 1

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8Disease Ontology, 19GeneReviews, 60UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Ear diseases


Aliases & Descriptions:

ataxia with oculomotor apraxia type 1 8 19
ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 60
aoa1 19


External Ids:

Disease Ontology8 DOID:0050754

Related Diseases for Ataxia with Oculomotor Apraxia Type 1

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17GeneCards, 18GeneDecks
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Diseases in the Ataxia-Oculomotor Apraxia 3 family:

Ataxia with Oculomotor Apraxia Type 2 ataxia with oculomotor apraxia type 1

Diseases related to Ataxia with Oculomotor Apraxia Type 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1apraxia31.2APTX
2cerebellar ataxia30.5APTX
3ataxia with oculomotor apraxia type 210.4
4early-onset ataxia with oculomotor apraxia and hypoalbuminemia10.1
5coenzyme q10 deficiency, primary, 110.0
6spinocerebellar ataxia10.0HTT
7multiple system atrophy10.0SLC6A3, HTT
8movement disease10.0HTT, SLC6A3
9spinocerebellar ataxia type 310.0HTT, SLC6A3
10prion disease10.0SLC6A3, HTT
11huntington's disease10.0HTT, SLC6A3
12toxic encephalopathy10.0HTT, SLC6A3
13pheochromocytoma10.0HTT, SLC6A3
14parkinson's disease10.0HTT, SLC6A3

Graphical network of diseases related to Ataxia with Oculomotor Apraxia Type 1:



Diseases related to ataxia with oculomotor apraxia type 1

Clinical Features for Ataxia with Oculomotor Apraxia Type 1

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Drugs & Therapeutics for Ataxia with Oculomotor Apraxia Type 1

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Ataxia with Oculomotor Apraxia Type 1

Drug clinical trials:

Search ClinicalTrials for Ataxia with Oculomotor Apraxia Type 1

Search NIH Clinical Center for Ataxia with Oculomotor Apraxia Type 1

Search CenterWatch for Ataxia with Oculomotor Apraxia Type 1

Genetic Tests for Ataxia with Oculomotor Apraxia Type 1

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Anatomical Context for Ataxia with Oculomotor Apraxia Type 1

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Animal Models for Ataxia with Oculomotor Apraxia Type 1 or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Ataxia with Oculomotor Apraxia Type 1:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.1SLC6A3, HTT

Publications for Ataxia with Oculomotor Apraxia Type 1

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50PubMed
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Articles related to Ataxia with Oculomotor Apraxia Type 1:

idTitleAuthorsYear
1
A novel mutation in the aprataxin (APTX) gene in an Iranian individual suffering early-onset ataxia with oculomotor apraxia type 1(AOA1) disease. (23183622)
2012
2
(1)H MR spectroscopy in Friedreich's ataxia and ataxia with oculomotor apraxia type 2. (20713024)
2010
3
Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit. (21686683)
2009
4
Nigrostriatal involvement in ataxia with oculomotor apraxia type 1. (18004640)
2008
5
Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit. (18202221)
2008
6
Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis. (18403580)
2008
7
Type 1 ataxia with oculomotor apraxia with aprataxin gene mutations in two American children. (16159533)
2005
8
Ataxia with oculomotor apraxia type 1 in Southern Italy: late onset and variable phenotype. (15596775)
2004
9
Cerebellar ataxia with oculomotor apRAxia type 1: clinical and genetic studies. (14506070)
2003
10
Ataxia with Oculomotor Apraxia Type 1 (20301629)
1993

Genetic Variations for Ataxia with Oculomotor Apraxia Type 1

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Expression for genes affiliated with Ataxia with Oculomotor Apraxia Type 1

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ataxia with Oculomotor Apraxia Type 1

Search GEO for disease gene expression data for Ataxia with Oculomotor Apraxia Type 1.

Pathways for genes affiliated with Ataxia with Oculomotor Apraxia Type 1

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53Reactome, 29KEGG
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Pathways related to Ataxia with Oculomotor Apraxia Type 1 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.1SLC6A3, HTT

Compounds for genes affiliated with Ataxia with Oculomotor Apraxia Type 1

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Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Ataxia with Oculomotor Apraxia Type 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1coq10449.3APTX, HTT
2dopamine44 28 11 2412.1SLC6A3, HTT
3minocycline44 1110.0SLC6A3, HTT
4nmda44 289.8SLC6A3, HTT

GO Terms for genes affiliated with Ataxia with Oculomotor Apraxia Type 1

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16Gene Ontology
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Cellular components related to Ataxia with Oculomotor Apraxia Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1axonGO:0304249.1SLC6A3, HTT

Biological processes related to Ataxia with Oculomotor Apraxia Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell deathGO:0082199.0SLC6A3, APTX
2locomotory behaviorGO:0076268.8SLC6A3, HTT

Molecular functions related to Ataxia with Oculomotor Apraxia Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein N-terminus bindingGO:0474859.0SLC6A3, APTX

Products for genes affiliated with Ataxia with Oculomotor Apraxia Type 1

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Sources for Ataxia with Oculomotor Apraxia Type 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet